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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
TLDR
Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
Wild-Type Nonneuronal Cells Extend Survival of SOD1 Mutant Motor Neurons in ALS Mice
TLDR
Nonneuronal cells that do not express mutant SOD1 delay degeneration and significantly extend survival of mutant-expressing motor neurons.
Evidence of Increased Oxidative Damage in Both Sporadic and Familial Amyotrophic Lateral Sclerosis
TLDR
Immunohistochemical studies showed increased neuronal staining for hemeoxygenase‐1, malondialdehyde‐modified protein, and OH8dG in both SALS and FALS spinal cord, providing further evidence that oxidative damage may play a role in the pathogenesis of neuronal degeneration in both FALS and SALS.
Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis
TLDR
Information suggests it will be productive to investigate other genetic determinants in amyotrophic lateral sclerosis and to use epidemiological characteristics of the disease to help discern molecular mechanisms of motor neuron cell death.
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
TLDR
A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD in a four-generation, 50-member Scandinavian family affected with ALS and frontotemporal dementia.
Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.
TLDR
Model simulations showed that abnormal slow inactivation, although not required for expression of a paralytic phenotype, may accentuate muscle membrane depolarization, paralysis, and sensitivity to hyperkalemia.
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
TLDR
These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein, and the biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with DuchenNE's and Becker's Dystrophies and shows promise as an accurate diagnostic tool.
Increased oxidative damage to DNA in ALS patients.
TLDR
It is suggested that 8OH2'dG may provide a useful tool for monitoring therapeutic interventions in this disease and be consistent with the hypothesis that oxidative pathology accompanies the neurodegenerative process in ALS.
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.
TLDR
Data suggest that a defective gene located in the chromosome 9q21-q22 region may be linked to ALS with FTD, a set of families in which persons develop both ALS and FTD or either ALS or FTD alone.
Caspase-1 and -3 are sequentially activated in motor neuron death in Cu,Zn superoxide dismutase-mediated familial amyotrophic lateral sclerosis.
TLDR
A common toxicity of mutant SOD1 is a sequential activation of at least two caspases, caspase-1 that acts slowly as a chronic initiator and casp enzyme-3 acting as the final effector of cell death.
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